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Article

[An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs].

Revue neurologique - 1 Apr 2005

Verny C, Amati-Bonneau P, Dubas F, Malthiéry Y, Reynier P, Bonneau D

Abstract excerpt

INTRODUCTION: In 1961, Garcin et al. described a family with several members affected with optic atrophy associated with cataract, and neurological symptoms. The authors believed this condition to be distinct from other diseases known at that time, e.g. the Behr syndrome, Marinesco-Sjogren syndrome and Friedreich's ataxia. METHOD: This family was followed over a period of 40 years and genes known to be...

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Source

Identifiers

PMID: 15924081
DOI: 10.1016/s0035-3787(05)85075-1

Genes

OPA3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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